Phenotype #0000302382

Individual ID	00410277
Associated disease	MDDGA3;MEB;WWS
Inheritance	Familial, autosomal recessive
Diagnosis/Initial	-
Age/Examination	12d
Diagnosis/Definite	dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A3
Age/Diagnosis	-
Age/Onset	0d
Phenotype/Onset	-
Phenotype details	suspected retinal detachment in the right eye noted soon after birth; endoscopic third ventriculostomy at 1 day of life for hydrocephalus after magnetic resonance imaging revealed severe brain and brainstem malformation with an absent corpus callosum, cortical gyral thickening, cerebellar vermian hypoplasia, and markedly enlarged lateral and third ventricles; unremarkable anterior segment both eyes; fundus right eye: retinal detachment that obscured the optic nerve and fovea, but with a bullous elevation in a nearby macular area and superior elevated fibrosis - avascular retina with multiple lacunae and full-thickness holes; left eye: moderate optic nerve hypoplasia, an indistinct but attached fovea, and an anomalous distribution of vessels with very reduced caliber to vessels coursing superiorly, which appeared to terminate in the equatorial zone; periphery of the left eye featureless with poor pigmentation and an impressive extent of visible choroidal vasculature; fluorescein angiography right eye: leakage from the fibrosis, indicative of extraretinal fibrovascular proliferation, left eye: hypoplastic retina with prominent choroidal flush and anomalous vasculature that terminated in the equatorial zone; prophylactic laser treatment performed in each eye in areas of nonperfusion, and pars plana vitrectomy, lensectomy, and silicone oil placement were performed in the right eye
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-05-23 12:39:39 +02:00 (CEST)
Date last edited	N/A